ES2720282T3 - Análisis genómico fetal a partir de una muestra biológica materna - Google Patents
Análisis genómico fetal a partir de una muestra biológica materna Download PDFInfo
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- ES2720282T3 ES2720282T3 ES17168527T ES17168527T ES2720282T3 ES 2720282 T3 ES2720282 T3 ES 2720282T3 ES 17168527 T ES17168527 T ES 17168527T ES 17168527 T ES17168527 T ES 17168527T ES 2720282 T3 ES2720282 T3 ES 2720282T3
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Families Citing this family (213)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US8532930B2 (en) | 2005-11-26 | 2013-09-10 | Natera, Inc. | Method for determining the number of copies of a chromosome in the genome of a target individual using genetic data from genetically related individuals |
| US10081839B2 (en) | 2005-07-29 | 2018-09-25 | Natera, Inc | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US9424392B2 (en) | 2005-11-26 | 2016-08-23 | Natera, Inc. | System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals |
| US10083273B2 (en) | 2005-07-29 | 2018-09-25 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US11111543B2 (en) | 2005-07-29 | 2021-09-07 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US11111544B2 (en) | 2005-07-29 | 2021-09-07 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US8609338B2 (en) | 2006-02-28 | 2013-12-17 | University Of Louisville Research Foundation, Inc. | Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms |
| SI2351858T1 (sl) | 2006-02-28 | 2015-06-30 | University Of Louisville Research Foundation Med Center Three, | Zaznavanje fetalnih kromosomskih nenormalnosti z uporabo tandema polimorfizmov posameznih nukleotidov |
| US20080050739A1 (en) | 2006-06-14 | 2008-02-28 | Roland Stoughton | Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats |
| WO2007147074A2 (en) | 2006-06-14 | 2007-12-21 | Living Microsystems, Inc. | Use of highly parallel snp genotyping for fetal diagnosis |
| WO2009105531A1 (en) * | 2008-02-19 | 2009-08-27 | Gene Security Network, Inc. | Methods for cell genotyping |
| CA2717320A1 (en) * | 2008-03-11 | 2009-09-17 | Sequenom, Inc. | Nucleic acid-based tests for prenatal gender determination |
| US9367800B1 (en) | 2012-11-08 | 2016-06-14 | 23Andme, Inc. | Ancestry painting with local ancestry inference |
| US20110092763A1 (en) * | 2008-05-27 | 2011-04-21 | Gene Security Network, Inc. | Methods for Embryo Characterization and Comparison |
| EP2321642B1 (en) | 2008-08-04 | 2017-01-11 | Natera, Inc. | Methods for allele calling and ploidy calling |
| US8476013B2 (en) | 2008-09-16 | 2013-07-02 | Sequenom, Inc. | Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
| US8962247B2 (en) * | 2008-09-16 | 2015-02-24 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses |
| US9524369B2 (en) | 2009-06-15 | 2016-12-20 | Complete Genomics, Inc. | Processing and analysis of complex nucleic acid sequence data |
| EP2854056A3 (en) | 2009-09-30 | 2015-06-03 | Natera, Inc. | Methods for non-invasive pre-natal ploidy calling |
| EP2496717B1 (en) | 2009-11-05 | 2017-06-07 | The Chinese University of Hong Kong | Fetal genomic analysis from a maternal biological sample |
| WO2011066476A1 (en) * | 2009-11-25 | 2011-06-03 | Quantalife, Inc. | Methods and compositions for detecting genetic material |
| US9926593B2 (en) | 2009-12-22 | 2018-03-27 | Sequenom, Inc. | Processes and kits for identifying aneuploidy |
| WO2011090556A1 (en) | 2010-01-19 | 2011-07-28 | Verinata Health, Inc. | Methods for determining fraction of fetal nucleic acid in maternal samples |
| AU2011207561B2 (en) | 2010-01-19 | 2014-02-20 | Verinata Health, Inc. | Partition defined detection methods |
| AU2010343276B2 (en) * | 2010-01-19 | 2015-05-28 | Verinata Health, Inc. | Methods for determining fraction of fetal nucleic acid in maternal samples |
| US9323888B2 (en) | 2010-01-19 | 2016-04-26 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| US10388403B2 (en) | 2010-01-19 | 2019-08-20 | Verinata Health, Inc. | Analyzing copy number variation in the detection of cancer |
| US9260745B2 (en) | 2010-01-19 | 2016-02-16 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| US20120100548A1 (en) | 2010-10-26 | 2012-04-26 | Verinata Health, Inc. | Method for determining copy number variations |
| EP2513341B1 (en) * | 2010-01-19 | 2017-04-12 | Verinata Health, Inc | Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing |
| US20110312503A1 (en) | 2010-01-23 | 2011-12-22 | Artemis Health, Inc. | Methods of fetal abnormality detection |
| US11339429B2 (en) | 2010-05-18 | 2022-05-24 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US10316362B2 (en) | 2010-05-18 | 2019-06-11 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US11326208B2 (en) | 2010-05-18 | 2022-05-10 | Natera, Inc. | Methods for nested PCR amplification of cell-free DNA |
| US20190010543A1 (en) | 2010-05-18 | 2019-01-10 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US11939634B2 (en) | 2010-05-18 | 2024-03-26 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US11322224B2 (en) | 2010-05-18 | 2022-05-03 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US11408031B2 (en) | 2010-05-18 | 2022-08-09 | Natera, Inc. | Methods for non-invasive prenatal paternity testing |
| AU2011255641A1 (en) | 2010-05-18 | 2012-12-06 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US12221653B2 (en) | 2010-05-18 | 2025-02-11 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US11332793B2 (en) | 2010-05-18 | 2022-05-17 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US12152275B2 (en) | 2010-05-18 | 2024-11-26 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US9677118B2 (en) | 2014-04-21 | 2017-06-13 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US11332785B2 (en) | 2010-05-18 | 2022-05-17 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| EP2596127A2 (en) * | 2010-07-23 | 2013-05-29 | Esoterix Genetic Laboratories, LLC | Identification of differentially represented fetal or maternal genomic regions and uses thereof |
| US11031095B2 (en) | 2010-08-06 | 2021-06-08 | Ariosa Diagnostics, Inc. | Assay systems for determination of fetal copy number variation |
| US20140342940A1 (en) | 2011-01-25 | 2014-11-20 | Ariosa Diagnostics, Inc. | Detection of Target Nucleic Acids using Hybridization |
| US10533223B2 (en) | 2010-08-06 | 2020-01-14 | Ariosa Diagnostics, Inc. | Detection of target nucleic acids using hybridization |
| US20130040375A1 (en) | 2011-08-08 | 2013-02-14 | Tandem Diagnotics, Inc. | Assay systems for genetic analysis |
| US20120034603A1 (en) | 2010-08-06 | 2012-02-09 | Tandem Diagnostics, Inc. | Ligation-based detection of genetic variants |
| US20130261003A1 (en) | 2010-08-06 | 2013-10-03 | Ariosa Diagnostics, In. | Ligation-based detection of genetic variants |
| US11203786B2 (en) | 2010-08-06 | 2021-12-21 | Ariosa Diagnostics, Inc. | Detection of target nucleic acids using hybridization |
| US8700338B2 (en) | 2011-01-25 | 2014-04-15 | Ariosa Diagnosis, Inc. | Risk calculation for evaluation of fetal aneuploidy |
| US10167508B2 (en) | 2010-08-06 | 2019-01-01 | Ariosa Diagnostics, Inc. | Detection of genetic abnormalities |
| KR102040307B1 (ko) | 2010-11-30 | 2019-11-27 | 더 차이니즈 유니버시티 오브 홍콩 | 암과 연관된 유전적 또는 분자적 이상들의 검출 |
| WO2012078792A2 (en) * | 2010-12-07 | 2012-06-14 | Stanford University | Non-invasive determination of fetal inheritance of parental haplotypes at the genome-wide scale |
| WO2012088456A2 (en) | 2010-12-22 | 2012-06-28 | Natera, Inc. | Methods for non-invasive prenatal paternity testing |
| US20120190020A1 (en) * | 2011-01-25 | 2012-07-26 | Aria Diagnostics, Inc. | Detection of genetic abnormalities |
| US11270781B2 (en) | 2011-01-25 | 2022-03-08 | Ariosa Diagnostics, Inc. | Statistical analysis for non-invasive sex chromosome aneuploidy determination |
| US10131947B2 (en) | 2011-01-25 | 2018-11-20 | Ariosa Diagnostics, Inc. | Noninvasive detection of fetal aneuploidy in egg donor pregnancies |
| US8756020B2 (en) * | 2011-01-25 | 2014-06-17 | Ariosa Diagnostics, Inc. | Enhanced risk probabilities using biomolecule estimations |
| US9994897B2 (en) | 2013-03-08 | 2018-06-12 | Ariosa Diagnostics, Inc. | Non-invasive fetal sex determination |
| EP3483285B1 (en) | 2011-02-09 | 2021-07-14 | Bio-Rad Laboratories, Inc. | Analysis of nucleic acids |
| JP6153874B2 (ja) | 2011-02-09 | 2017-06-28 | ナテラ， インコーポレイテッド | 非侵襲的出生前倍数性呼び出しのための方法 |
| CN103492589B (zh) | 2011-02-24 | 2016-06-15 | 香港中文大学 | 多胎妊娠的分子测试 |
| PT3456844T (pt) | 2011-04-12 | 2020-08-25 | Verinata Health Inc | Resolução de frações de genoma utilizando contagens de polimorfismos |
| GB2484764B (en) | 2011-04-14 | 2012-09-05 | Verinata Health Inc | Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies |
| US9411937B2 (en) | 2011-04-15 | 2016-08-09 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| US20140235474A1 (en) | 2011-06-24 | 2014-08-21 | Sequenom, Inc. | Methods and processes for non invasive assessment of a genetic variation |
| WO2013028739A1 (en) * | 2011-08-25 | 2013-02-28 | Complete Genomics | Phasing of heterozygous loci to determine genomic haplotypes |
| US8712697B2 (en) | 2011-09-07 | 2014-04-29 | Ariosa Diagnostics, Inc. | Determination of copy number variations using binomial probability calculations |
| US9984198B2 (en) | 2011-10-06 | 2018-05-29 | Sequenom, Inc. | Reducing sequence read count error in assessment of complex genetic variations |
| US9367663B2 (en) | 2011-10-06 | 2016-06-14 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US10196681B2 (en) | 2011-10-06 | 2019-02-05 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US20140242588A1 (en) | 2011-10-06 | 2014-08-28 | Sequenom, Inc | Methods and processes for non-invasive assessment of genetic variations |
| US10424394B2 (en) | 2011-10-06 | 2019-09-24 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| EP2805280B1 (en) | 2012-01-20 | 2022-10-05 | Sequenom, Inc. | Diagnostic processes that factor experimental conditions |
| US9238836B2 (en) * | 2012-03-30 | 2016-01-19 | Pacific Biosciences Of California, Inc. | Methods and compositions for sequencing modified nucleic acids |
| WO2013130848A1 (en) * | 2012-02-29 | 2013-09-06 | Natera, Inc. | Informatics enhanced analysis of fetal samples subject to maternal contamination |
| HK1206055A1 (en) * | 2012-03-02 | 2015-12-31 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US9892230B2 (en) | 2012-03-08 | 2018-02-13 | The Chinese University Of Hong Kong | Size-based analysis of fetal or tumor DNA fraction in plasma |
| JP6411995B2 (ja) | 2012-03-13 | 2018-10-24 | ザ チャイニーズ ユニバーシティー オブ ホンコン | 非侵襲的出生前診断のために大量並列シークエンシング・データを分析する方法 |
| AU2012380221B2 (en) * | 2012-05-14 | 2016-09-29 | Bgi Genomics Co., Ltd | Method, system and computer readable medium for determining base information in predetermined area of fetus genome |
| US9920361B2 (en) | 2012-05-21 | 2018-03-20 | Sequenom, Inc. | Methods and compositions for analyzing nucleic acid |
| US10504613B2 (en) | 2012-12-20 | 2019-12-10 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US10289800B2 (en) | 2012-05-21 | 2019-05-14 | Ariosa Diagnostics, Inc. | Processes for calculating phased fetal genomic sequences |
| WO2013177581A2 (en) * | 2012-05-24 | 2013-11-28 | University Of Washington Through Its Center For Commercialization | Whole genome sequencing of a human fetus |
| US11261494B2 (en) | 2012-06-21 | 2022-03-01 | The Chinese University Of Hong Kong | Method of measuring a fractional concentration of tumor DNA |
| US10497461B2 (en) | 2012-06-22 | 2019-12-03 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| CN104619863A (zh) * | 2012-07-13 | 2015-05-13 | 生命技术公司 | 采用一组snp的人身份识别 |
| WO2014011928A1 (en) | 2012-07-13 | 2014-01-16 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
| AU2013292287A1 (en) | 2012-07-19 | 2015-02-19 | Ariosa Diagnostics, Inc. | Multiplexed sequential ligation-based detection of genetic variants |
| US20140100126A1 (en) | 2012-08-17 | 2014-04-10 | Natera, Inc. | Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data |
| US20140065621A1 (en) * | 2012-09-04 | 2014-03-06 | Natera, Inc. | Methods for increasing fetal fraction in maternal blood |
| EP2893478A1 (en) * | 2012-09-06 | 2015-07-15 | Ancestry.com DNA, LLC | Using haplotypes to infer ancestral origins for recently admixed individuals |
| CA2884066C (en) * | 2012-09-20 | 2021-08-10 | The Chinese University Of Hong Kong | Non-invasive determination of methylome of fetus or tumor from plasma |
| US10706957B2 (en) | 2012-09-20 | 2020-07-07 | The Chinese University Of Hong Kong | Non-invasive determination of methylome of tumor from plasma |
| US9732390B2 (en) | 2012-09-20 | 2017-08-15 | The Chinese University Of Hong Kong | Non-invasive determination of methylome of fetus or tumor from plasma |
| US10482994B2 (en) * | 2012-10-04 | 2019-11-19 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US9213947B1 (en) | 2012-11-08 | 2015-12-15 | 23Andme, Inc. | Scalable pipeline for local ancestry inference |
| US10643738B2 (en) | 2013-01-10 | 2020-05-05 | The Chinese University Of Hong Kong | Noninvasive prenatal molecular karyotyping from maternal plasma |
| WO2014113204A1 (en) | 2013-01-17 | 2014-07-24 | Personalis, Inc. | Methods and systems for genetic analysis |
| US20130309666A1 (en) | 2013-01-25 | 2013-11-21 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| AU2014222312B2 (en) | 2013-02-28 | 2019-08-01 | The Chinese University Of Hong Kong | Maternal plasma transcriptome analysis by massively parallel RNA sequencing |
| EP2971100A1 (en) | 2013-03-13 | 2016-01-20 | Sequenom, Inc. | Primers for dna methylation analysis |
| TWI637058B (zh) | 2013-03-15 | 2018-10-01 | 香港中文大學 | 測定多胞胎妊娠之胎兒基因組 |
| ES2939547T3 (es) | 2013-04-03 | 2023-04-24 | Sequenom Inc | Métodos y procedimientos para la evaluación no invasiva de variaciones genéticas |
| CN105189787A (zh) * | 2013-05-09 | 2015-12-23 | 豪夫迈·罗氏有限公司 | 使用hla标志物测定母体血液中的胎儿dna的分数的方法 |
| IL300163B2 (en) | 2013-05-24 | 2024-06-01 | Sequenom Inc | Methods and processes for non-invasive assessment of genetic variations |
| MX2015016911A (es) | 2013-06-21 | 2016-06-21 | Sequenom Inc | Metodos y procesos para evaluacion no invasiva de variaciones geneticas. |
| US20150004601A1 (en) * | 2013-06-28 | 2015-01-01 | Ariosa Diagnostics, Inc. | Massively parallel sequencing of random dna fragments for determination of fetal fraction |
| GB201318369D0 (en) * | 2013-10-17 | 2013-12-04 | Univ Leuven Kath | Methods using BAF |
| EP4567682A3 (en) | 2013-08-30 | 2025-09-03 | Personalis, Inc. | Methods for genomic analysis |
| US10577655B2 (en) | 2013-09-27 | 2020-03-03 | Natera, Inc. | Cell free DNA diagnostic testing standards |
| US10262755B2 (en) | 2014-04-21 | 2019-04-16 | Natera, Inc. | Detecting cancer mutations and aneuploidy in chromosomal segments |
| US9499870B2 (en) * | 2013-09-27 | 2016-11-22 | Natera, Inc. | Cell free DNA diagnostic testing standards |
| WO2015051275A1 (en) | 2013-10-03 | 2015-04-09 | Personalis, Inc. | Methods for analyzing genotypes |
| IL289974B (en) | 2013-10-04 | 2022-09-01 | Sequenom Inc | Methods and processes for non-invasive evaluation of genetic variations |
| EP3055427B1 (en) | 2013-10-07 | 2018-09-12 | Sequenom, Inc. | Methods and processes for non-invasive assessment of chromosome alterations |
| EP3736344A1 (en) | 2014-03-13 | 2020-11-11 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US12492429B2 (en) | 2014-04-21 | 2025-12-09 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
| JP6659575B2 (ja) | 2014-04-21 | 2020-03-04 | ナテラ， インコーポレイテッド | 変異の検出および染色体分節の倍数性 |
| US20180173846A1 (en) | 2014-06-05 | 2018-06-21 | Natera, Inc. | Systems and Methods for Detection of Aneuploidy |
| EP3940703A1 (en) | 2014-07-18 | 2022-01-19 | Illumina, Inc. | Non-invasive prenatal diagnosis of fetal genetic conditions using cellular dna and cell free dna |
| US20160026759A1 (en) * | 2014-07-22 | 2016-01-28 | Yourgene Bioscience | Detecting Chromosomal Aneuploidy |
| KR102696857B1 (ko) | 2014-07-25 | 2024-08-19 | 유니버시티 오브 워싱톤 | 무세포 dna를 생성하는 조직 및/또는 세포 유형을 결정하는 방법 및 이를 사용하여 질환 또는 장애를 확인하는 방법 |
| EP3760739B1 (en) | 2014-07-30 | 2025-09-03 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| CN104182655B (zh) * | 2014-09-01 | 2017-03-08 | 上海美吉生物医药科技有限公司 | 一种判断胎儿基因型的方法 |
| CN104232778B (zh) * | 2014-09-19 | 2016-08-17 | 天津华大基因科技有限公司 | 同时确定胎儿单体型及染色体非整倍性的方法及装置 |
| US10612080B2 (en) * | 2014-09-22 | 2020-04-07 | Roche Molecular Systems, Inc. | Digital PCR for non-invasive prenatal testing |
| EP4026913A1 (en) | 2014-10-30 | 2022-07-13 | Personalis, Inc. | Methods for using mosaicism in nucleic acids sampled distal to their origin |
| CN105648044B (zh) * | 2014-11-13 | 2019-10-11 | 天津华大基因科技有限公司 | 确定胎儿目标区域单体型的方法和装置 |
| CN105648045B (zh) * | 2014-11-13 | 2019-10-11 | 天津华大基因科技有限公司 | 确定胎儿目标区域单体型的方法和装置 |
| CN104561309B (zh) * | 2015-01-04 | 2017-04-19 | 北京积水潭医院 | 一种来自人辅助生殖囊胚植入前进行出生安全性预测的试剂盒 |
| CN104561311B (zh) * | 2015-01-04 | 2016-08-17 | 北京大学第三医院 | 一种来自人辅助生殖胚胎发育早期出生安全性预测的试剂盒 |
| US10364467B2 (en) | 2015-01-13 | 2019-07-30 | The Chinese University Of Hong Kong | Using size and number aberrations in plasma DNA for detecting cancer |
| WO2016112539A1 (zh) * | 2015-01-16 | 2016-07-21 | 深圳华大基因股份有限公司 | 确定胎儿核酸含量的方法和装置 |
| ES2908347T3 (es) * | 2015-02-10 | 2022-04-28 | Univ Hong Kong Chinese | Detección de mutaciones para cribado de cáncer y análisis fetal |
| US10424396B2 (en) * | 2015-03-27 | 2019-09-24 | Sentieon Inc. | Computation pipeline of location-dependent variant calls |
| DK3294906T3 (en) | 2015-05-11 | 2024-08-05 | Natera Inc | Methods for determining ploidy |
| AU2016264102A1 (en) * | 2015-05-18 | 2017-12-21 | Karius, Inc. | Compositions and methods for enriching populations of nucleic acids |
| WO2017004612A1 (en) * | 2015-07-02 | 2017-01-05 | Arima Genomics, Inc. | Accurate molecular deconvolution of mixtures samples |
| EP4063517A1 (en) * | 2015-07-20 | 2022-09-28 | The Chinese University Of Hong Kong | Methylation pattern analysis of haplotypes in tissues in dna mixture |
| PT3967775T (pt) | 2015-07-23 | 2023-10-10 | Univ Hong Kong Chinese | Análise de padrões de fragmentação de adn sem células |
| HK1248286A1 (zh) | 2015-08-12 | 2018-10-12 | The Chinese University Of Hong Kong | 血浆dna的单分子测序 |
| MY199897A (en) | 2015-09-22 | 2023-11-28 | Univ Hong Kong Chinese | Accurate quantification of fetal dna fraction by shallow-depth sequencing of maternal plasma dna |
| GB201518665D0 (en) | 2015-10-21 | 2015-12-02 | Singapore Volition Pte Ltd | Method for enrichment of cell free nucleosomes |
| CN105335625B (zh) * | 2015-11-04 | 2018-02-16 | 和卓生物科技（上海）有限公司 | 胚胎植入前的遗传学检测装置 |
| CN109477138A (zh) | 2016-04-15 | 2019-03-15 | 纳特拉公司 | 肺癌检测方法 |
| CN105926043B (zh) * | 2016-04-19 | 2018-08-28 | 苏州贝康医疗器械有限公司 | 一种提高孕妇血浆游离dna测序文库中胎儿游离dna占比的方法 |
| US12416047B2 (en) * | 2016-05-06 | 2025-09-16 | Myriad Women's Health, Inc. | Noninvasive prenatal diagnostic methods |
| US11299783B2 (en) | 2016-05-27 | 2022-04-12 | Personalis, Inc. | Methods and systems for genetic analysis |
| WO2018003220A1 (ja) * | 2016-06-29 | 2018-01-04 | トヨタ自動車株式会社 | Ｄｎａライブラリーの作製方法及びｄｎａライブラリーを用いたゲノムｄｎａ解析方法 |
| CA3030890A1 (en) | 2016-07-27 | 2018-02-01 | Sequenom, Inc. | Genetic copy number alteration classifications |
| US11854666B2 (en) | 2016-09-29 | 2023-12-26 | Myriad Women's Health, Inc. | Noninvasive prenatal screening using dynamic iterative depth optimization |
| WO2018067517A1 (en) | 2016-10-04 | 2018-04-12 | Natera, Inc. | Methods for characterizing copy number variation using proximity-litigation sequencing |
| EP3535415A4 (en) | 2016-10-24 | 2020-07-01 | The Chinese University of Hong Kong | TUMOR DETECTION METHODS AND SYSTEMS |
| GB201618485D0 (en) | 2016-11-02 | 2016-12-14 | Ucl Business Plc | Method of detecting tumour recurrence |
| TWI675918B (zh) * | 2016-11-18 | 2019-11-01 | 香港中文大學 | 基於單倍型之通用非侵入性單基因疾病產前檢測 |
| US10011870B2 (en) | 2016-12-07 | 2018-07-03 | Natera, Inc. | Compositions and methods for identifying nucleic acid molecules |
| JP7237003B2 (ja) | 2017-01-24 | 2023-03-10 | セクエノム， インコーポレイテッド | 遺伝子片の評価のための方法およびプロセス |
| WO2018137685A1 (en) | 2017-01-25 | 2018-08-02 | The Chinese University Of Hong Kong | Diagnostic applications using nucleic acid fragments |
| US10894976B2 (en) | 2017-02-21 | 2021-01-19 | Natera, Inc. | Compositions, methods, and kits for isolating nucleic acids |
| US12421550B2 (en) | 2017-03-17 | 2025-09-23 | Sequenom, Inc. | Methods and processes for assessment of genetic mosaicism |
| CA3057589A1 (en) | 2017-03-24 | 2018-09-27 | Counsyl, Inc. | Copy number variant caller |
| EP3622660B1 (en) * | 2017-05-12 | 2023-08-30 | Massachusetts Institute of Technology | Systems and methods for crowdsourcing, analyzing, and/or matching personal data |
| JP7056012B2 (ja) | 2017-05-19 | 2022-04-19 | トヨタ自動車株式会社 | ランダムプライマーセット、及びこれを用いたｄｎａライブラリーの作製方法 |
| KR102145417B1 (ko) * | 2017-05-24 | 2020-08-19 | 지니너스 주식회사 | 무세포 핵산으로부터 수득된 서열 분석 데이터에 대한 배경 대립인자의 빈도 분포를 생성하는 방법 및 이를 이용하여 무세포 핵산으로부터 변이를 검출하는 방법 |
| WO2019010410A1 (en) | 2017-07-07 | 2019-01-10 | Massachusetts Institute Of Technology | SYSTEMS AND METHODS OF GENETIC IDENTIFICATION AND ANALYSIS |
| JP7434143B2 (ja) * | 2017-07-12 | 2024-02-20 | アンディ・コーポレイション | パターン認識システム |
| CN109280697B (zh) * | 2017-07-20 | 2022-04-26 | 天昊生物医药科技（苏州）有限公司 | 利用孕妇血浆游离dna进行胎儿基因型鉴定的方法 |
| CN111051536A (zh) | 2017-07-26 | 2020-04-21 | 香港中文大学 | 利用不含细胞的病毒核酸改善癌症筛选 |
| US11519024B2 (en) | 2017-08-04 | 2022-12-06 | Billiontoone, Inc. | Homologous genomic regions for characterization associated with biological targets |
| CN111051511A (zh) | 2017-08-04 | 2020-04-21 | 十亿至一公司 | 用于与生物靶相关的表征的靶相关分子 |
| ES2923478T3 (es) | 2017-08-04 | 2022-09-27 | Billiontoone Inc | Determinación y análisis de resultados de una secuenciación con moléculas asociadas a una diana en una cuantificación asociada con dianas biológicas |
| CN107545153B (zh) * | 2017-10-25 | 2021-06-11 | 桂林电子科技大学 | 一种基于卷积神经网络的核小体分类预测方法 |
| US12084720B2 (en) | 2017-12-14 | 2024-09-10 | Natera, Inc. | Assessing graft suitability for transplantation |
| JP7047373B2 (ja) | 2017-12-25 | 2022-04-05 | トヨタ自動車株式会社 | 次世代シーケンサー用プライマー並びにその製造方法、次世代シーケンサー用プライマーを用いたｄｎａライブラリー並びにその製造方法、及びｄｎａライブラリーを用いたゲノムｄｎａ解析方法 |
| EP4650456A2 (en) | 2018-01-05 | 2025-11-19 | BillionToOne, Inc. | Quality control templates for ensuring validity of sequencing-based assays |
| WO2019161244A1 (en) | 2018-02-15 | 2019-08-22 | Natera, Inc. | Methods for isolating nucleic acids with size selection |
| CN112236535A (zh) | 2018-04-14 | 2021-01-15 | 纳特拉公司 | 用于借助于循环肿瘤dna的个人化检测的癌症检测和监测的方法 |
| WO2019210873A1 (en) | 2018-05-03 | 2019-11-07 | The Chinese University Of Hong Kong | Size-tagged preferred ends and orientation-aware analysis for measuring properties of cell-free mixtures |
| US10801064B2 (en) | 2018-05-31 | 2020-10-13 | Personalis, Inc. | Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples |
| US11814750B2 (en) | 2018-05-31 | 2023-11-14 | Personalis, Inc. | Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples |
| US12234509B2 (en) | 2018-07-03 | 2025-02-25 | Natera, Inc. | Methods for detection of donor-derived cell-free DNA |
| CN113227396A (zh) | 2018-08-06 | 2021-08-06 | 十亿至一公司 | 用于定量生物靶的稀释标签 |
| US20210340601A1 (en) * | 2018-09-03 | 2021-11-04 | Ramot At Tel-Aviv University Ltd. | Method and system for identifying gene disorder in maternal blood |
| WO2020051542A2 (en) * | 2018-09-07 | 2020-03-12 | Illumina, Inc. | A method to determine if a circulating fetal cell isolated from a pregnant mother is from either the current or a historical pregnancy |
| CN113330121A (zh) | 2018-12-17 | 2021-08-31 | 纳特拉公司 | 用于循环细胞分析的方法 |
| CN109887548B (zh) * | 2019-01-18 | 2022-11-08 | 臻悦生物科技江苏有限公司 | 基于捕获测序的ctDNA占比的检测方法及检测装置 |
| CN111560424A (zh) * | 2019-02-13 | 2020-08-21 | 广州医科大学附属第一医院 | 可检测的目标核酸、探针、确定胎儿f8基因单体型的方法及应用 |
| CN114072527B (zh) | 2019-03-25 | 2025-03-04 | 香港中文大学 | 确定循环核酸的线性和环状形式 |
| BR112021020684A2 (pt) * | 2019-04-22 | 2021-12-07 | Personal Genome Diagnostics Inc | Métodos e sistemas para análise genética |
| EP3980559A1 (en) | 2019-06-06 | 2022-04-13 | Natera, Inc. | Methods for detecting immune cell dna and monitoring immune system |
| EP4000070A4 (en) | 2019-07-19 | 2023-08-09 | 23Andme, Inc. | PHASE-SENSITIVE DETERMINATION OF IDENTICAL DNA SEGMENTS BY DESCENT |
| ES2942363T3 (es) * | 2019-08-14 | 2023-05-31 | Bgi Genomics Co Ltd | Método y dispositivo para determinar la concentración de ácido nucleico fetal en la sangre de una embarazada |
| CA3110884A1 (en) | 2019-08-16 | 2021-02-25 | The Chinese University Of Hong Kong | Determination of base modifications of nucleic acids |
| CN112466397A (zh) * | 2019-09-09 | 2021-03-09 | 深圳乐土生物科技有限公司 | 一种用于亲缘关系检测的方法和装置 |
| EP4055610A4 (en) | 2019-11-05 | 2023-11-29 | Personalis, Inc. | ESTIMATION OF TUMOR PURITY FROM SINGLE SAMPLES |
| GB2608502A (en) * | 2019-11-18 | 2023-01-04 | Embark Veterinary Inc | Methods and systems for determining ancestral relatedness |
| GB2626687B (en) * | 2020-02-05 | 2024-10-16 | Univ Hong Kong Chinese | Molecular analyses using long cell-free fragments in pregnancy |
| CN111312332B (zh) * | 2020-02-13 | 2020-10-30 | 国家卫生健康委科学技术研究所 | 基于hla基因的生物信息处理方法、装置及终端 |
| US11817176B2 (en) | 2020-08-13 | 2023-11-14 | 23Andme, Inc. | Ancestry composition determination |
| WO2022098980A1 (en) * | 2020-11-08 | 2022-05-12 | The Johns Hopkins University | Methods and related aspects for analyzing chromosome number status |
| CN112575077A (zh) * | 2020-12-23 | 2021-03-30 | 东莞市妇幼保健院 | 一种胎儿显性遗传病新发突变的无创基因检测方法及应用 |
| JP2024516150A (ja) | 2021-04-22 | 2024-04-12 | ナテラ， インコーポレイテッド | 腫瘍成長の速度を決定するための方法 |
| JP2024528932A (ja) | 2021-08-02 | 2024-08-01 | ナテラ， インコーポレイテッド | 妊娠中の女性における新生物を検出するための方法 |
| US12297508B2 (en) | 2021-10-05 | 2025-05-13 | Personalis, Inc. | Customized assays for personalized cancer monitoring |
| JP2025502843A (ja) | 2022-01-04 | 2025-01-28 | ナテラ， インコーポレイテッド | がん検出及びモニタリングのための方法 |
| US12043873B2 (en) | 2022-03-21 | 2024-07-23 | Billiontoone, Inc. | Molecule counting of methylated cell-free DNA for treatment monitoring |
| WO2025208288A1 (zh) * | 2024-04-01 | 2025-10-09 | 深圳华大生命科学研究院 | 基因预测方法、装置、计算机设备及计算机可读存储介质 |
| CN119007813B (zh) * | 2024-09-29 | 2025-11-07 | 漳州片仔癀药业股份有限公司 | 一种基于mtDNA的高海拔饲养林麝的种源鉴定及遴选方法 |
| CN120412715B (zh) * | 2025-03-17 | 2025-11-28 | 上海蓝沙生物科技有限公司 | 一种通过多态性位点连锁区域块评估孕期母本游离血液中胎儿DNA浓度（cffDNA）的方法 |
Family Cites Families (28)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| GB9704444D0 (en) | 1997-03-04 | 1997-04-23 | Isis Innovation | Non-invasive prenatal diagnosis |
| US6664056B2 (en) * | 2000-10-17 | 2003-12-16 | The Chinese University Of Hong Kong | Non-invasive prenatal monitoring |
| US6927028B2 (en) * | 2001-08-31 | 2005-08-09 | Chinese University Of Hong Kong | Non-invasive methods for detecting non-host DNA in a host using epigenetic differences between the host and non-host DNA |
| US6977162B2 (en) * | 2002-03-01 | 2005-12-20 | Ravgen, Inc. | Rapid analysis of variations in a genome |
| CA2477611A1 (en) | 2002-03-01 | 2003-09-12 | Ravgen, Inc. | Rapid analysis of variations in a genome |
| RU2200761C1 (ru) | 2002-04-01 | 2003-03-20 | Московский НИИ педиатрии и детской хирургии | Набор рекомбинантных плазмидных днк рyai 11-19, рyai 2-45, рys 37 и рyai 7-29 для определения происхождения добавочных или маркерных (мини-) хромосом человека |
| US7727720B2 (en) * | 2002-05-08 | 2010-06-01 | Ravgen, Inc. | Methods for detection of genetic disorders |
| US20070178478A1 (en) | 2002-05-08 | 2007-08-02 | Dhallan Ravinder S | Methods for detection of genetic disorders |
| SG173221A1 (en) | 2003-02-28 | 2011-08-29 | Ravgen Inc | Methods for detection of genetic disorders |
| AU2004217872B2 (en) * | 2003-03-05 | 2010-03-25 | Genetic Technologies Limited | Identification of fetal DNA and fetal cell markers in maternal plasma or serum |
| DE60328193D1 (de) | 2003-10-16 | 2009-08-13 | Sequenom Inc | Nicht invasiver Nachweis fötaler genetischer Merkmale |
| EP1859050B1 (en) | 2005-03-18 | 2012-10-24 | The Chinese University Of Hong Kong | A method for the detection of chromosomal aneuploidies |
| US20070122823A1 (en) | 2005-09-01 | 2007-05-31 | Bianchi Diana W | Amniotic fluid cell-free fetal DNA fragment size pattern for prenatal diagnosis |
| GB0523276D0 (en) * | 2005-11-15 | 2005-12-21 | London Bridge Fertility | Chromosomal analysis by molecular karyotyping |
| EP2385143B1 (en) | 2006-02-02 | 2016-07-13 | The Board of Trustees of the Leland Stanford Junior University | Non-invasive fetal genetic screening by digital analysis |
| SI2351858T1 (sl) * | 2006-02-28 | 2015-06-30 | University Of Louisville Research Foundation Med Center Three, | Zaznavanje fetalnih kromosomskih nenormalnosti z uporabo tandema polimorfizmov posameznih nukleotidov |
| WO2007147074A2 (en) | 2006-06-14 | 2007-12-21 | Living Microsystems, Inc. | Use of highly parallel snp genotyping for fetal diagnosis |
| CN106834481A (zh) * | 2007-07-23 | 2017-06-13 | 香港中文大学 | 用于分析遗传变异的方法 |
| US12180549B2 (en) * | 2007-07-23 | 2024-12-31 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using genomic sequencing |
| EP2321642B1 (en) * | 2008-08-04 | 2017-01-11 | Natera, Inc. | Methods for allele calling and ploidy calling |
| CA2748030A1 (en) | 2008-12-22 | 2010-07-01 | Arnold R. Oliphant | Methods and genotyping panels for detecting alleles, genomes, and transcriptomes |
| EP2496717B1 (en) | 2009-11-05 | 2017-06-07 | The Chinese University of Hong Kong | Fetal genomic analysis from a maternal biological sample |
| ES3026544T3 (en) * | 2009-11-06 | 2025-06-11 | Univ Hong Kong Chinese | Size-based genomic analysis for prenatal diagnosis |
| US9260745B2 (en) | 2010-01-19 | 2016-02-16 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| AU2011255641A1 (en) | 2010-05-18 | 2012-12-06 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US20120190020A1 (en) | 2011-01-25 | 2012-07-26 | Aria Diagnostics, Inc. | Detection of genetic abnormalities |
| CN103492589B (zh) | 2011-02-24 | 2016-06-15 | 香港中文大学 | 多胎妊娠的分子测试 |
| TWI637058B (zh) | 2013-03-15 | 2018-10-01 | 香港中文大學 | 測定多胞胎妊娠之胎兒基因組 |
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